Canonical Allele Identifier: CA590103875

Gene: ALAD

Linked Data

• dbSNP Id: rs1564368271
• gnomAD v2: 9-116151265-CG-C
• gnomAD v4: 9-113388985-CG-C
• MyVariant Identifiers: chr9:g.116151266del (hg19) ; chr9:g.113388986del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.113388987del , CM000671.2:g.113388987del	GRCh38
NC_000009.11:g.116151267del , CM000671.1:g.116151267del	GRCh37
NC_000009.10:g.115191088del	NCBI36
NG_008716.1:g.17353del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409155.8:c.922del MANE Select	ENSP00000386284.3:p.Arg308AlafsTer20
ENST00000409155.7:c.922del	ENSP00000386284.3:p.Arg308AlafsTer20
ENST00000482847.5:n.1195del
NM_000031.5:c.922del	NP_000022.3:p.Arg308AlafsTer20
XM_005251799.1:c.1009del	XP_005251856.1:p.Arg337AlafsTer20
XM_011518363.1:c.1048del	XP_011516665.1:p.Arg350AlafsTer20
XM_011518364.1:c.949del	XP_011516666.1:p.Arg317AlafsTer20
NM_001003945.2:c.1009del	NP_001003945.1:p.Arg337AlafsTer20
NM_001317745.1:c.898del	NP_001304674.1:p.Arg300AlafsTer20
XM_011518364.2:c.949del	XP_011516666.1:p.Arg317AlafsTer20
XM_024447449.1:c.1009del	XP_024303217.1:p.Arg337AlafsTer20
NM_000031.6:c.922del MANE Select	NP_000022.3:p.Arg308AlafsTer20
NM_001003945.3:c.1009del	NP_001003945.1:p.Arg337AlafsTer20
NM_001317745.2:c.898del	NP_001304674.1:p.Arg300AlafsTer20